List of variants in gene SERPINB8 studied for autosomal recessive congenital ichthyosis

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_002640.4(SERPINB8):c.1076A>G (p.His359Arg)	rs3826616	0.52652
NM_002640.4(SERPINB8):c.203G>A (p.Arg68Gln)	rs1944270	0.37248
NM_002640.4(SERPINB8):c.477G>A (p.Leu159=)	rs11537989	0.27903
NM_002640.4(SERPINB8):c.910A>G (p.Thr304Ala)	rs3169983	0.12469
NM_002640.4(SERPINB8):c.850C>T (p.Arg284Ter)	rs144666367	0.00037
NM_002640.4(SERPINB8):c.2T>C (p.Met1Thr)	rs374612640	0.00001
NM_002640.4(SERPINB8):c.270del (p.Asn90fs)
NM_002640.4(SERPINB8):c.947del (p.Lys316fs)	rs762923677

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